PTPRM: Protein Tyrosine Phosphatase Receptor Type M
A key regulator of cell adhesion and signaling in cancer and neurodevelopment
Gene Information Card
| Symbol | PTPRM |
|---|---|
| Full Name | Protein tyrosine phosphatase receptor type M |
| Gene Type | protein-coding |
| Chromosomal Location | 18p11.23 |
| NCBI Gene ID | 5797 ncbi.nlm.nih.gov/gene/5797 |
| Ensembl ID | ENSG00000101986 |
| UniProt ID | P28827 |
| OMIM ID | 176888 |
| HGNC ID | 9675 |
| Aliases | RPTPmu, R-PTP-mu, PTPRL1 |
Description
PTPRM encodes a member of the protein tyrosine phosphatase (PTP) family, specifically a receptor-type PTP that contains a MAM domain, an Ig-like domain, and four fibronectin type III-like domains in its extracellular region, and two cytoplasmic tyrosine phosphatase domains. The protein functions as a homophilic cell adhesion molecule and regulates cell-cell adhesion, migration, and signaling. It is implicated in tumor suppression, neurodevelopment, and vascular biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Loss of PTPRM expression promotes cell migration and invasion through altered adhesion and Src signaling | PMID: 23431147 |
| Glioblastoma | PTPRM downregulation correlates with increased tumor cell motility and poor prognosis | PMID: 25605248 |
| Breast cancer | Epigenetic silencing of PTPRM contributes to metastatic progression | PMID: 27562872 |
| Neurodevelopmental disorders | Rare variants in PTPRM associated with autism spectrum disorder and intellectual disability | PMID: 29706646 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Heart | 6.7 | Low |
| Kidney | 15.2 | Medium |
| Liver | 3.1 | Not detected |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.9 | High expression |
| HeLa | 5.2 | Low expression |
| MCF7 | 2.8 | Very low expression |
| U87MG | 1.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncation of extracellular domain |
| c.789_790del (p.Glu264fs) | Frameshift | Rare | Loss of function; premature termination |
| c.2015A>G (p.Asn672Ser) | Missense | 0.01% | Unknown functional effect; located in phosphatase domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay, reducing phosphatase activity and cell adhesion.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PTPRM.
Dominant Negative (DN)
Potential dominant-negative effects from missense mutations in the extracellular domain that disrupt homophilic binding without complete loss of protein.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell adhesion molecules (CAMs) - Homo sapiens (hsa04514)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006934)
Protein Summary
Receptor-type tyrosine-protein phosphatase mu (PTPRM) is a transmembrane protein that mediates homophilic cell-cell adhesion and regulates intracellular signaling through its cytoplasmic phosphatase domains. It dephosphorylates substrates such as Src family kinases and catenins, thereby modulating cell migration, proliferation, and differentiation. PTPRM is frequently downregulated in cancers, suggesting a tumor suppressor role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTPRM Knockout HEK293 Cell Line | EDJ-KQ5601 | Human | 5797 | Details Get a Quote |
| PTPRM Knockout A-549 Cell Line | EDJ-KQ28882 | Human | 5797 | Details Get a Quote |
| PTPRM Knockout HCT 116 Cell Line | EDJ-KQ28883 | Human | 5797 | Details Get a Quote |
| PTPRM Knockout HeLa Cell Line | EDJ-KQ28884 | Human | 5797 | Details Get a Quote |
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